ClinVar

NM_004183.4(BEST1):c.109T>C (p.Leu37=)

Gene:

BEST1:bestrophin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q12.3

Genomic location:

• Chr11: 61951915 (on Assembly GRCh38)
• Chr11: 61719387 (on Assembly GRCh37)

Preferred name:

NM_004183.4(BEST1):c.109T>C (p.Leu37=)

HGVS:

• NC_000011.10:g.61951915T>C
• NG_009033.1:g.7032T>C
• NM_001139443.2:c.-29+1488T>C
• NM_001300786.2:c.-29+1488T>C
• NM_001300787.2:c.-29+1488T>C
• NM_001363592.1:c.109T>C
• NM_004183.4:c.109T>CMANE SELECT
• NP_001350521.1:p.Leu37=
• NP_004174.1:p.Leu37=
• NC_000011.9:g.61719387T>C
• NM_004183.3:c.109T>C
• NP_004174.1:p.(=)
• NR_134580.2:n.222T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs1800007

NCBI 1000 Genomes Browser:

rs1800007

Molecular consequence:

• NM_001139443.2:c.-29+1488T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001300786.2:c.-29+1488T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001300787.2:c.-29+1488T>C - intron variant - [Sequence Ontology: SO:0001627]
• NR_134580.2:n.222T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001363592.1:c.109T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004183.4:c.109T>C - synonymous variant - [Sequence Ontology: SO:0001819]